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在“Elsevier电子期刊”中，命中：221条，耗时：小于0.01 秒

在所有数据库中总计命中：247条

1.Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome

作者：Nasim Khoshnam^a ; Haynes Robinson^b ; Michael R. Clay^a ; Lauren R. Schaffer^a ; Scott E. Gillespie^a ; Bahig M. Shehata^a ; ^{bshehat@emory.edu}

关键词：Calcifying nested stromal-epithelial tumor (CNSET) ; Beckwith-Wiedemann syndrome (BWS) ; Uniparental disomy ; Abnormal methylation at 11p15.5

刊名：European Journal of Medical Genetics

出版年：2017

2.Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

作者：Yo Niida ; ^{niida@kanazawa-med.ac.jp}

刊名：Brain and Development

出版年：2017

3.Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

作者：Lorena Travaglini ; Chiara Aiello

刊名：Brain and Development

出版年：2017

4.Translocations, inversions and other chromosome rearrangements

作者：Scott J. Morin ; M.D.^a ; ^b ; Jennifer Eccles ; M.S. ; L.C.G.C.^c ; Amanda Iturriaga ; M.S. ; L.C.G.C.^c ; Rebekah S. Zimmerman ; Ph.D. ; F.A.C.M.G.^c ; ^{rzimmerman@feclabs.org}

关键词：Reciprocal translocation ; Robertsonian translocation ; preimplantation genetic diagnosis ; inversions ; marker chromosomes

刊名：Fertility and Sterility

出版年：2017

5.Diagnosis and clinical management of embryonic mosaicism

作者：Nidhee M. Sachdev ; M.D. ; Susan M. Maxwell ; M.D. ; ^{susan.mcclelland@nyumc.org} ; Andria G. Besser ; M.S. ; James A. Grifo ; M.D. ; Ph.D.

关键词：Preimplantation genetic screening ; next-generation sequencing ; embryonic mosaicism

刊名：Fertility and Sterility

出版年：2017

6.Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos

作者：Eun-hye Shin^a ; Eunhae Cho^b ; Cha Gon Lee^a ; ^{leechagon@eulji.ac.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：Uniparental disomy ; Uniparental heterodisomy ; Maternal ; Chromosome 14 ; Temple syndrome ; SNP microarray

刊名：Brain and Development

出版年：2016

7.Acquired uniparental disomy of chromosome 9p in hematologic malignancies

作者：Linghua Wang^a ; David A. Wheeler^a ; Josef T. Prchal^b ; ^{josef.prchal@hsc.utah.edu" class="auth_mail" title="E-mail the corresponding author}

刊名：Experimental Hematology

出版年：2016

8.Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes

作者：Karla Svobodova^a ; ^{karla.svobodova@vfn.cz" class="auth_mail" title="E-mail the corresponding author} ; Zuzana Zemanova^a ; Halka Lhotska^a ; Milena Novakova^a ; Lucie Podskalska^a ; Monika Belickova^b ; Jana Brezinova^b ; Iveta Sarova^a ; ^b ; Silvia Izakova^a ; Libuse Lizcova^a ; Adela Berkova^a ; Magda Siskova^c ; Anna Jonasova^c ; Jaroslav Cermak^b ; Kyra Michalova^a ; ^b

关键词：Copy number neutral loss of heterozygosity ; Acquired uniparental disomy ; Myelodysplastic syndromes ; Complex chromosomal aberration ; Mutation ; TP53 gene

刊名：Leukemia Research

出版年：2016

9.Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^{cpc_mmh@yahoo.com} ; Shuan-Pei Lin^b ; ^g ; ^h ; ⁱ ; Yi-Hui Lin^j ; Schu-Rern Chern^b ; Peih-Shan Wu^k ; Yen-Ni Chen^a ; Shin-Wen Chen^a ; Chien-Wen Yang^b ; Wen-Lin Chen^a ; Wayseen Wang^b ; ^l

关键词：CHD7 ; chromosome 8q12 duplication syndrome ; mosaicism ; ring chromosome 8 ; small supernumerary marker chromosome 8

刊名：Taiwanese Journal of Obstetrics and Gynecology

出版年：2016

10.Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability

作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^{cpc_mmh@yahoo.com} ; Shuan-Pei Lin^b ; ^g ; ^h ; ⁱ ; Schu-Rern Chern^b ; Peih-Shan Wu^j ; Yen-Ni Chen^a ; Shin-Wen Chen^a ; Chien-Wen Yang^b ; Meng-Shan Lee^a ; Wayseen Wang^b ; ^k

关键词：attention deficit hyperactivity disorder ; intellectual disability ; obesity ; ring chromosome 8 ; small supernumerary marker chromosome

刊名：Taiwanese Journal of Obstetrics and Gynecology

出版年：2016

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